{"doi":"10.3389/fcell.2022.957292","title":"Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants","abstract":"Genome-wide association studies (GWAS) have identified a vast number of variants associated with various complex human diseases and traits. However, most of these GWAS variants reside in non-coding regions producing no proteins, making the interpretation of these variants a daunting challenge. Prior evidence indicates that a subset of non-coding variants detected within or near cis-regulatory elements (e.g., promoters, enhancers, silencers, and insulators) might play a key role in disease etiology by regulating gene expression. Advanced sequencing- and imaging-based technologies, together with powerful computational methods, enabling comprehensive characterization of regulatory DNA interactions, have substantially improved our understanding of the three-dimensional (3D) genome architecture. Recent literature witnesses plenty of examples where using chromosome conformation capture (3C)-based technologies successfully links non-coding variants to their target genes and prioritizes relevant tissues or cell types. These examples illustrate the critical capability of 3D genome organization in annotating non-coding GWAS variants. This review discusses how 3D genome organization information contributes to elucidating the potential roles of non-coding GWAS variants in disease etiology.","journal":"Frontiers in Cell and Developmental Biology","year":2022,"id":252809,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":23,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9557,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":254659,"name":"Weifang Liu","orcid":"0000-0003-2278-8946","position":1,"is_corresponding":false},{"id":555502,"name":"Jiawen Chen","orcid":"0009-0003-6582-6559","position":2,"is_corresponding":false},{"id":11263,"name":"Quan Sun","orcid":"0000-0001-8324-2803","position":3,"is_corresponding":false},{"id":254661,"name":"Ming Hu","orcid":"0000-0003-0987-2916","position":4,"is_corresponding":false},{"id":24805,"name":"Yun Li","orcid":"0000-0002-9275-4189","position":5,"is_corresponding":false},{"id":408588,"name":"Wujuan Zhong","orcid":"0000-0002-6824-2255","position":0,"is_corresponding":true}],"reference_count":143,"raw_metadata":null,"created_at":"2026-07-19T00:24:50.819822Z","pmid":"36060805","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}